Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing.

Abstract

In the setting of a normal first-trimester ultrasound, an amniocentesis may be a better option than chorionic villous sampling for invasive diagnostic testing after a cell-free DNA high risk for trisomy 13, given the high rates of confined placental mosaicism. In unaffected fetuses, other evaluations should be considered depending on the cell-free DNA results, including maternal karyotyping for monosomy X, uniparental disomy testing for chromosomes with imprinted genes, serial growth scans for trisomy 16, and a workup for maternal malignancy for multiple aneuploidies or autosomal monosomy.

• Authors: Rosemary Rogers, Anne Mardy
• Journal: Clinical obstetrics and gynecology (Clin Obstet Gynecol) Vol. 66 Issue 3 Pg. 595-606 (09 01 2023) ISSN: 1532-5520 [Electronic] United States
• PMID: 37650670 (Publication Type: Journal Article)
• Copyright: Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.

Chemical References

• Cell-Free Nucleic Acids

Topics

• Pregnancy
• Humans
• Female
• Amniocentesis
• Noninvasive Prenatal Testing
• Placenta
• Aneuploidy
• Cell-Free Nucleic Acids